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Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden, Chantal; Neveling, Kornelia; Zafeiropopoulou, Dimitra; Gilissen, Christian; Pfundt, Rolph; Rinne, Tuula; de Leeuw, Nicole; Faas, Brigitte; Gardeitchik, Thatjana; Sallevelt, Suzanne C E H; Paulussen, Aimee; Stevens, Servi J C; Sikkel, Esther; Elting, Mariet W; van Maarle, Merel C; Diderich, Karin E M; Corsten-Janssen, Nicole; Lichtenbelt, Klaske D; Lachmeijer, Guus; Vissers, Lisenka E L M; Yntema, Helger G; Nelen, Marcel; Feenstra, Ilse; van Zelst-Stams, Wendy A G.
  • Deden C; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
  • Neveling K; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Zafeiropopoulou D; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
  • de Leeuw N; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
  • Faas B; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
  • Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
  • Sallevelt SCEH; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Paulussen A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Sikkel E; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Elting MW; Department of Obstetrics and Gynecology, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • van Maarle MC; Department of Clinical Genetics, AMsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Diderich KEM; Department of Clinical Genetics, AMsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Corsten-Janssen N; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Lichtenbelt KD; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Lachmeijer G; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
  • Vissers LELM; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
  • Yntema HG; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
  • Nelen M; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
  • Feenstra I; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
  • van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
Prenat Diagn ; 40(8): 972-983, 2020 07.
Article en En | MEDLINE | ID: mdl-32333414
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Ultrasonografía Prenatal / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Pregnancy Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Ultrasonografía Prenatal / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Pregnancy Idioma: En Año: 2020 Tipo del documento: Article